✦ LIBER ✦

Molecular diagnosis of maple syrup urine disease: Screening and identification of gene mutations in the branched-chain α-ketoacid dehydrogenase multienzyme complex

✍ Scribed by Y. Nobukuni; H. Mitsubuchi; K. Ohta; I. Akaboshi; Y. Indo; F. Endo; I. Matsuda

Publisher: Springer
Year: 1992
Tongue: English
Weight: 608 KB
Volume: 15
Category: Article
ISSN: 0141-8955
DOI: 10.1007/bf01800029

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A structural abnormality of E1component

A structural abnormality of E1component of the branched-chain α-keto acid dehydrogenase complex in maple syrup urine disease

✍ Y. Indo; A. Kitano; I. Akaboshi; F. Endo; I. Matsuda 📂 Article 📅 1987 🏛 Springer 🌐 English ⚖ 256 KB

A nonsense mutation (R242X) in the branc

A nonsense mutation (R242X) in the branched-chain α-keto acid dehydrogenase E1α subunit gene (BCKDHA) as a cause of maple syrup urine disease

✍ Jeffrey Chinsky; Melissa Appel; Shlomo Almashanu; Paul Costeas; Nicholas Ambulos 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 136 KB 👁 1 views

Mutation analysis of DNA from cultured amniocytes with absent branched-chain -ketoacid dehydrogenase activity revealed a C to T transition producing a nonsense mutation (R242X) in exon 7 of the gene encoding the E1 subunit of this multienzyme complex (BCKDHA). This pregnancy occured in a large consa